KERA

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Corneal abnormalities

  BIALLELIC, autosomal or pseudoautosomal

• Corneal dystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Structural eye disease

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• cornea plana 2

  0.72

• cornea plana

  0.46

• congenital cornea plana

  0.37

• Fuchs endothelial corneal dystrophy

  0.08

• posterior polymorphous corneal dystrophy

  0.08

• autosomal recessive spondylocostal dysostosis

  0.08

• early-onset non-syndromic cataract

  0.07

• Familial ocular anterior segment mesenchymal dysgenesis

  0.07

• hair color

  0.07

• Peters anomaly

  0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)